Noninvasive Prenatal Testing/Noninvasive Prenatal Diagnosis: the Position of the National Society of Genetic Counselors
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The 1997 discovery of free fetal DNA in maternal plasma launched clinical researchers’ efforts to establish a reliable method for non-invasive prenatal testing for fetal genetic conditions. Various methods, including, but not limited to, massively parallel sequencing (MPS) and selective analysis of cell-free fetal DNA in maternal plasma, have recently been developed as highly sensitive and specific noninvasive screening tools for common fetal chromosome aneuploidies. Incorporating these new noninvasive technologies into clinical practice will impact the current prenatal screening paradigm for fetal aneuploidy, in which genetic counseling plays an integral role. The National Society of Genetic Counselors (NSGC) currently supports Noninvasive Prenatal Testing/Noninvasive Prenatal Diagnosis (NIPT/NIPD) as an option for patients whose pregnancies are considered to be at an increased risk for certain chromosome abnormalities. NSGC urges that NIPT/NIPD only be offered in the context of informed consent, education, and counseling by a qualified provider, such as a certified genetic counselor. Patients whose NIPT/NIPD results are abnormal, or who have other factors suggestive of a chromosome abnormality, should receive genetic counseling and be given the option of standard confirmatory diagnostic testing.
- Ashoor, G., Syngelaki, A., Wang, E., Struble, C., Oliphant, A., Song, K., et al. (2012). Trisomy 13 detection in the first trimester of pregnancy using a chromosome-selective cell-free DNA analysis method. Ultrasound in Obstetrics & Gynecology. doi:10.1002/uog.12299 [Epub ahead of print].
- Benn, P., Borrell, A., Cuckle, H., Dugoff, L., Gross, S., Johnson, J. A., et al. (2012a). Prenatal Detection of Down Syndrome using Massively Parallel Sequencing (MPS): a rapid response statement from a committee on behalf of the Board of the International Society for Prenatal Diagnosis, 24 October 2011. Prenatal Diagnosis, 32(1), 1–2. doi:10.1002/pd.2919.
- Benn, P., Cuckle, H., & Pergament, E. (2012b). Non-invasive prenatal diagnosis for Down syndrome: the paradigm will shift, but slowly. Ultrasound in Obstetrics & Gynecology, 39(2), 127–130. doi:10.1002/uog.11083.
- Bianchi, D. W., Platt, L. D., Goldberg, J. D., Abuhamad, A. Z., Sehnert, A. J., & Rava, R. P. (2012). Genome-Wide Fetal Aneuploidy Detection by Maternal Plasma DNA Sequencing. Obstetrics and Gynecology, 119(5), 1–13.
- Chan, K., Yam, I., Leung, K. Y., Tang, M., Chan, T. K., & Chan, V. (2010). Detection of paternal alleles in maternal plasma for non-invasive prenatal diagnosis of beta-thalassemia: a feasibility study in southern Chinese. European Journal of Obstetrics, Gynecology, and Reproductive Biology, 150(1), 28–33.
- Chiu, R. W., Chan, K. C., Gao, Y., Lau, V. Y., Zheng, W., Leung, T. Y., et al. (2008). Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma. Proceedings of the National Academy of Sciences of the United States of America, 105(51), 20458–20463.
- Disability Rights Education and Defense Fund, Generations Ahead, National Women’s Health Network, Reproductive Health Technologies Project, and World Institute on Disability. (2008). The Prenatally and Postnatally Diagnosed Conditions Awareness Act. Retrieved from www.dredf.org/InfoSheetBrownbackKennedy.pdf
- Fan, H. C., Blumenfeld, Y. J., Chitkara, U., Hudgins, L., & Quake, S. R. (2008). Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood. Proceedings of the National Academy of Sciences of the United States of America, 105(42), 16266–16271.
- Lo, Y. M., Corbetta, N., Chamberlain, P. F., Rai, V., Sargent, I. L., Redman, C. W., et al. (1997). Presence of fetal DNA in maternal plasma and serum. Lancet, 350(9076), 485–487.
- National Coalition for Health Professional Education in Genetics and National Society of Genetic Counselors. Non-Invasive Prenatal Testing (NIPT) Factsheet. Retrieved from http://www.nchpeg.org/index.php?option=com_content&view=article&id=384&Itemid=255
- Nicolaides, K. H., Syngelaki, A., Ashoor, G., Birdir, C., & Touzet, G. (2012). Noninvasive prenatal testing for fetal trisomies in a routinely screened first-trimester population. American Journal of Obstetrics and Gynecology, 207, x.ex–x.ex.
- Norton, M. E., Brar, H., Weiss, J., Karimi, A., Laurent, L. C., Caughey, A. B., et al. (2012). Non-Invasive Chromosomal Evaluation (NICE) study: results of a multicenter, prospective, Cohort study for detection of fetal trisomy 21 and trisomy 18. American Journal of Obstetrics and Gynecology, 207(2), 137.e1–8. Epub 2012 Jun 1.
- NSGC (2010). NSGC Position Statement: Reproductive Freedom. Retrieved from http://www.nsgc.org/Media/PositionStatements/tabid/330/Default.aspx
- Palomaki, G. E., Kloza, E. M., Lambert-Messerlian, G. M., Haddow, J. E., Neveux, L. M., Ehrich, M., et al. (2011). DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation study. Genetics in Medicine, 13(11), 913–920.
- Palomaki, G. E., Deciu, C., Kloza, E. M., Lambert-Messerlian, G. M., Haddow, J. E., Neveux, L. M., et al. (2012). DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study. Genetics in Medicine, 14(3), 296–305. doi:10.1038/gim.2011.73.
- Sparks, A. B., Struble, C. A., Wang, E. T., Song, K., & Oliphant, A. (2012). Noninvasive prenatal detection and selective analysis of cell-free DNA obtained from maternal blood: evaluation for trisomy 21 and trisomy 18. American Journal of Obstetrics and Gynecology, 206(4), 319.e1–9. Epub 2012 Jan 26.
- Noninvasive Prenatal Testing/Noninvasive Prenatal Diagnosis: the Position of the National Society of Genetic Counselors
Journal of Genetic Counseling
Volume 22, Issue 3 , pp 291-295
- Cover Date
- Print ISSN
- Online ISSN
- Springer US
- Additional Links
- Noninvasive prenatal diagnosis
- Aneuploidy screening
- Prenatal diagnosis
- Down syndrome
- Trisomy 13
- Trisomy 18
- Trisomy 21
- Monosomy X
- Position Statement
- The National Society of Genetic Counselors
- Cellfree fetal DNA (cffDNA)
- Industry Sectors
- Author Affiliations
- 1. University of North Carolina, Chapel Hill, NC, USA
- 2. Verinata Health, Inc, San Carlos, CA, USA
- 3. Integrated Genetics, Dushore, PA, USA
- 4. Department of Genetics and Stanford Center for Biomedical Ethics, Stanford University, 300 Pasteur Drive, M/C 5208 (Room - Boswell A095), Stanford, CA, 94305-5208, USA
- 5. Bronxville, NY, USA
- 6. Levine Children’s Hospital at Carolinas Medical Center, Charlotte, NC, USA
- 7. Division of Genetics and Metabolism, Department of Pediatrics, University of California, Irvine, CA, USA